Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neurons

Developmental Dynamics : an Official Publication of the American Association of Anatomists
Elena ColomboVania Broccoli

Abstract

Mutations in the human ARX gene show unusually heterogeneous clinical presentations, including syndromic and nonsyndromic mental retardation, myoclonic epilepsy with spasticity, and lissencephaly with abnormal genitalia, that are believed to arise from an impairment of the embryonic mechanisms building the anterior central nervous system structures. Here, we show that the murine ortholog Arx has a highly dynamic expression pattern during both early shaping of the forebrain vesicle and later major events of neural migrations and cell-type specification. Early on, the Arx gene is specifically activated in anterior forebrain anlage. Afterward, Arx expression is confined to the telencephalic vesicles and is enhanced during differentiation of the subpallial structures of the ganglionic eminences, overlapping with Dlx2, Dlx5, and Gad1 transcriptional domains. Tangentially migrating neurons reaching the cortical plate are also Arx-positive at all embryonic stages analyzed. RNA-protein colabeling staining shows that Arx expression is maintained in the mature cortical interneurons, suggesting its involvement in the different functions of the gamma-aminobutyric acid (GABA)ergic neurons settled into the adult cerebral cortex. Finally, Arx...Continue Reading

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Citations

Sep 10, 2009·European Journal of Human Genetics : EJHG·Tod FullstonJenny Morton
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Oct 17, 2008·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·Gaia ColasanteVania Broccoli
Dec 7, 2013·Reproduction : the Official Journal of the Society for the Study of Fertility·Hongshi YuMarilyn B Renfree
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